Browsing by Author Ellaway, Carolyn

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Issue DateTitleAuthor(s)Citation
2016Family satisfaction following spinal fusion in Rett syndromeChristodoulou, John; Ellaway, Carolyn; Bunting, Catherine; Downs, Jenny; Jacoby, Peter; Leonard, Helen; Torode, Ian; Wong, Kingsley; Childrens Hospital Westmead: Paediatrics & Child Health; Childrens Hospital Westmead: Paediatrics & Child HealthFamily satisfaction following spinal fusion in Rett syndrome, Developmental Neurorehabilitation, vol.19, 1, 2016,pp 31-37
2014Gastrointestinal Dysmotility in Rett SyndromeEllaway, Carolyn; Baikie, Gordon; Bathgate, Katherine; Downs, Jenny A.; Lane, Jane; Leonard, Helen; Naseem, Nusrat; Percy, Alan K.; Ravikumara, Madhur; Weiss, Batia; Wong, Kingsley; Children's Hospital Westmead: Paediatrics & Child HealthGastrointestinal Dysmotility in Rett Syndrome, Journal of Pediatric Gastroenterology and Nutrition, vol.58, 2, 2014,pp 237-244
2008Glutaric aciduria type I: outcome following detection by newborn screeningBijarnia, S; Carpenter, Kevin; Christodoulou, John; Ellaway, Carolyn; Wilcken, Bridget; Wiley, Veronica; Children's Hospital Westmead: Medicine; Children's Hospital Westmead: Medicine; Children's Hospital Westmead: Paediatrics & Child Health; Children's Hospital Westmead: Paediatrics & Child Health; Children's Hospital Westmead: Paediatrics & Child Health; Children's Hospital Westmead: Paediatrics & Child HealthGlutaric aciduria type I: outcome following detection by newborn screening, Journal of Inherited Metabolic Disease (JIMD), vol.31,(4),2008,pp 503-507
2001Guidelines for reporting clinical features in cases with MECP2 mutationsChristodoulou, John; Ellaway, Carolyn; Amstrong, D; Anvret, M; Belichenko,, P; Budden, S; Cass, H; Clarke, A.; d'Esposito,, M; et, al; Kerr, Alison; Nomura, Y; Children's Hospital Westmead: Paediatrics & Child Health; Children's Hospital Westmead: Paediatrics & Child HealthGuidelines for reporting clinical features in cases with MECP2 mutations, Brain and Development, vol.23, 4,pp 208-211
2001Medium-term open label trial of L-carnitine in Rett SyndromeChristodoulou, John; Ellaway, Carolyn; Peat, Jennifer; Williams, Kylie; Leonard,, H; Children's Hospital Westmead: Paediatrics & Child Health; Children's Hospital Westmead: Paediatrics & Child Health; Communication Disorders; Engineering Faculty AdminMedium-term open label trial of L-carnitine in Rett Syndrome, Brain & Development, vol.23,(Supplement 1),2001,pp S85-S89
2014The Molecular Bases of Phenylketonuria (PKU) in New South Wales, Australia: Mutation Profile and Correlation with Tetrahydrobiopterin (BH4) ResponsivenessAlexander, Ian; Bhattacharya, Kaustuv; Christodoulou, John; Ellaway, Carolyn; Ho, Gladys; Wilcken, Bridget; Dennison, Barbara; Thompson, Sue; Childrens Hospital Westmead: Paediatrics & Child Health; Childrens Hospital Westmead: Paediatrics & Child Health; Childrens Hospital Westmead: Paediatrics & Child Health; Childrens Hospital Westmead: Paediatrics & Child Health; Childrens Hospital Westmead: Paediatrics & Child Health; Childrens Hospital Westmead: Paediatrics & Child HealthThe Molecular Bases of Phenylketonuria (PKU) in New South Wales, Australia: Mutation Profile and Correlation with Tetrahydrobiopterin (BH4) Responsiveness, JIMD Reports, vol.14, N/A, 2014,pp 55-65
2004Mutations Of Cdkl5 Cause A Severe Neurodevelopmental Disorder With Infantile Spasms And Mental Retardation.Bennetts, Bruce; Christodoulou, John; Ellaway, Carolyn; Lahooti, Hooshang; Pelka, G; Tam, Patrick; Watson, Catherine; Weaving, Linda; Williamson, Susan; Archer, Hayley; Clarke, Angus; Evans, Julie; Friend, Kathie L; Gecz, Jozef; Leonard, Helen; McKenzie, Olivia L D; Children's Hospital Westmead: Paediatrics & Child Health; Children's Hospital Westmead: Paediatrics & Child Health; Children's Hospital Westmead: Paediatrics & Child Health; Nepean Clinical School: Medicine; Children's Hospital Westmead: Childrens Medical Research Ins; Children's Hospital Westmead: Childrens Medical Research Ins; Children's Hospital Westmead: Childrens Medical Research Ins; Children's Hospital Westmead: Paediatrics & Child Health; Medicine Faculty OfficeMutations Of Cdkl5 Cause A Severe Neurodevelopmental Disorder With Infantile Spasms And Mental Retardation., American Journal of Human Genetics, vol.75,(N/A),2004,pp 1079-1093
2016The Natural History of Scoliosis in Females With Rett SyndromeChristodoulou, John; Ellaway, Carolyn; Elliott, Elizabeth; Askin, Geoffrey N; Bridge, Corinne; Cundy, Peter; Downs, Jennepher; Izatt, Maree T; Jacoby, Peter; Leonard, Helen; McPhee, Bruce; Thomson, Margaret R; Torode, Ian; Wong, Kingsley; Childrens Hospital Westmead: Paediatrics & Child Health; Childrens Hospital Westmead: Paediatrics & Child Health; Childrens Hospital Westmead: Paediatrics & Child HealthThe Natural History of Scoliosis in Females With Rett Syndrome, Spine, vol.41, 10, 2016,pp 856-863
2002Neonatology for the Generalist: Clinical approach to inborn errors of metabolism presenting in the newborn periodChristodoulou, John; Ellaway, Carolyn; Wilcken, Bridget; Children's Hospital Westmead: Paediatrics & Child Health; Children's Hospital Westmead: Paediatrics & Child Health; Children's Hospital Westmead: Paediatrics & Child HealthNeonatology for the Generalist: Clinical approach to inborn errors of metabolism presenting in the newborn period, Journal of Paediatrics and Child Health, vol.38,(5),2002,pp 511-517
2016Neurophysiological profile of peripheral neuropathy associated with childhood mitochondrial diseaseBhattacharya, Kaustuv; Christodoulou, John; Ellaway, Carolyn; Menezes, Manoj; Ouvrier, Robert; Clark, Damian; Farrar, Michelle; Pitt, Matthew; Rahman, Shamima; Ryan, Monique; Sampaio, Hugo; Thorburn, David; Ware, Tyson L; Wedatilake, Yehani; Childrens Hospital Westmead: Paediatrics & Child Health; Childrens Hospital Westmead: Paediatrics & Child Health; Childrens Hospital Westmead: Paediatrics & Child Health; Clinical and Rehabilitation Sciences; Childrens Hospital Westmead: Paediatrics & Child HealthNeurophysiological profile of peripheral neuropathy associated with childhood mitochondrial disease, Mitochondrion, vol.30, N/A, 2016,pp 162-167
2006Rett syndrome in Australia: A review of the epidemiology.Christodoulou, John; Ellaway, Carolyn; Williamson, Sarah; Bower, Carolyn; de Klerk, Nick; Laurvick, Crystal; Leonard, Helen; Ravine, David; Children's Hospital Westmead: Paediatrics & Child Health; Children's Hospital Westmead: Paediatrics & Child Health; Children's Hospital Westmead: Paediatrics & Child HealthRett syndrome in Australia: A review of the epidemiology., The Journal of Pediatrics, vol.148,(3),2006,pp 347-352
2005Rett syndrome: clinical review and genetic updateChristodoulou, John; Ellaway, Carolyn; G├ęcz, J; Weaving, L S; Children's Hospital Westmead: Paediatrics & Child Health; Children's Hospital Westmead: Paediatrics & Child HealthRett syndrome: clinical review and genetic update, Journal of Medical Genetics 2005, vol.42,(1),2005,pp 1-7
2001Sleep dysfunction in Rett syndrome: lack of age related decrease in sleep durationChristodoulou, John; Ellaway, Carolyn; Peat, Jennifer; Leonard,, H; Children's Hospital Westmead: Paediatrics & Child Health; Children's Hospital Westmead: Paediatrics & Child Health; Communication DisordersSleep dysfunction in Rett syndrome: lack of age related decrease in sleep duration, Brain & Development, vol.23,(1),2001,pp S101-S103
2007Sleep problems in Rett syndromeEllaway, Carolyn; de Klerk, Nicholas H.; Jacoby, Peter; Leonard, Helen; Nagarajan, Lakshmi; Young, Deidra; Children's Hospital Westmead: Paediatrics & Child HealthSleep problems in Rett syndrome, Brain & Development 2005, vol.29,(10),2007,pp 609-616
2016Surgical fusion of early onset severe scoliosis increases survival in Rett syndrome: A cohort studyEllaway, Carolyn; Elliott, Elizabeth; Askin, Geoffrey; Cundy, Peter; Downs, Jenny; Izatt, Maree; Leonard, Helen; McPhee, Bruce; Torode, Ian; Wong, Kingsley; Childrens Hospital Westmead: Paediatrics & Child Health; Childrens Hospital Westmead: Paediatrics & Child HealthSurgical fusion of early onset severe scoliosis increases survival in Rett syndrome: A cohort study, Developmental Medicine and Child Neurology, vol.58, 6, 2016,pp 632-638
2005Tetrahydrobiopterin-responsive phenylketonuria: The New South Wales experienceAlexander, Ian; Christodoulou, John; Ellaway, Carolyn; O'Grady, H; Wilcken, Bridget; Wiley, Veronica; Earl, John; Mitchell, John J.; Children's Hospital Westmead: Paediatrics & Child Health; Children's Hospital Westmead: Paediatrics & Child Health; Children's Hospital Westmead: Paediatrics & Child Health; Children's Hospital Westmead: Childrens Medical Research Ins; Children's Hospital Westmead: Paediatrics & Child Health; Children's Hospital Westmead: Paediatrics & Child HealthTetrahydrobiopterin-responsive phenylketonuria: The New South Wales experience, Molecular Genetics and Metabolism (2005), vol.86,(Suppl 1),2005,pp S81-S85
2015The trajectories of sleep disturbances in Rett syndromeEllaway, Carolyn; Downs, Jenny; Jacoby, Peter; Leonard, Helen; Wong, Kingsley; Childrens Hospital Westmead: Paediatrics & Child HealthThe trajectories of sleep disturbances in Rett syndrome, Journal of Sleep Research, vol.24, 2, 2015,pp 223-233
2013Update on the investigation of children with delayed developmentCollins, Felicity; Ellaway, Carolyn; Silove, Natalie; Children's Hospital Westmead: Paediatrics & Child Health; Children's Hospital Westmead: Paediatrics & Child HealthUpdate on the investigation of children with delayed development, Journal of Paediatrics and Child Health, vol.49, 7, 2013,pp 519-525